Alavattam Kris G, Esparza Jasmine M, Hu Mengwen, Shimada Ryuki, Kohrs Anna R, Abe Hironori, Munakata Yasuhisa, Otsuka Kai, Yoshimura Saori, Kitamura Yuka, Yeh Yu-Han, Hu Yueh-Chiang, Kim Jihye, Andreassen Paul R, Ishiguro Kei-Ichiro, Namekawa Satoshi H
Reproductive Sciences Center, Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Basic Sciences Division, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA.
bioRxiv. 2023 Oct 2:2023.09.30.560314. doi: 10.1101/2023.09.30.560314.
H3K9 tri-methylation (H3K9me3) plays emerging roles in gene regulation, beyond its accumulation on pericentric constitutive heterochromatin. It remains a mystery why and how H3K9me3 undergoes dynamic regulation in male meiosis. Here, we identify a novel, critical regulator of H3K9 methylation and spermatogenic heterochromatin organization: the germline-specific protein ATF7IP2 (MCAF2). We show that, in male meiosis, ATF7IP2 amasses on autosomal and X pericentric heterochromatin, spreads through the entirety of the sex chromosomes, and accumulates on thousands of autosomal promoters and retrotransposon loci. On the sex chromosomes, which undergo meiotic sex chromosome inactivation (MSCI), the DNA damage response pathway recruits ATF7IP2 to X pericentric heterochromatin, where it facilitates the recruitment of SETDB1, a histone methyltransferase that catalyzes H3K9me3. In the absence of ATF7IP2, male germ cells are arrested in meiotic prophase I. Analyses of ATF7IP2-deficient meiosis reveal the protein's essential roles in the maintenance of MSCI, suppression of retrotransposons, and global upregulation of autosomal genes. We propose that ATF7IP2 is a downstream effector of the DDR pathway in meiosis that coordinates the organization of heterochromatin and gene regulation through the spatial regulation of SETDB1-mediated H3K9me3 deposition.
H3K9三甲基化(H3K9me3)在基因调控中发挥着新的作用,这超出了其在着丝粒组成型异染色质上的积累。H3K9me3在雄性减数分裂中为何以及如何经历动态调控仍是一个谜。在这里,我们鉴定出一种新的、关键的H3K9甲基化和生精异染色质组织调节因子:生殖系特异性蛋白ATF7IP2(MCAF2)。我们表明,在雄性减数分裂中,ATF7IP2聚集在常染色体和X着丝粒异染色质上,扩散到整个性染色体,并在数千个常染色体启动子和逆转座子位点积累。在经历减数分裂性染色体失活(MSCI)的性染色体上,DNA损伤反应途径将ATF7IP2招募到X着丝粒异染色质,在那里它促进了组蛋白甲基转移酶SETDB1的招募,SETDB1催化H3K9me3。在没有ATF7IP穿2的情况下,雄性生殖细胞在减数分裂前期I停滞。对ATF7IP2缺陷型减数分裂的分析揭示了该蛋白在维持MSCI、抑制逆转座子和常染色体基因全局上调中的重要作用。我们提出,ATF7IP2是减数分裂中DDR途径的下游效应物,通过对SETDB1介导的H3K9me3沉积的空间调控来协调异染色质的组织和基因调控。